PATERNITY

TESTING & DNA

ANALYSIS
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Paternity testing
Who is the father?
Paternity testing

▸ Crude way of determining parentage is

the characteristic of the child e.g. color
of the eyes, color of the skin.
 Paternity testing

▸ 1 Kings 3:16 to 27
▹ King Solomon makes a decision about the
maternity of a disputed child by threatening to use
his sword to provide claimant with a portion of the
child
Paternity testing

▸ When paternity is in dispute, the arbiter of the truth is faced

with dilemma similar to that faced by Solomon.
▹ Lack of witness to the event
▹ Likelihood that the principals might not know the truth
or are lying.
Historical background

▸ ABO blood grouping system by Landsteiner in 1900 paved the

way for scientific determination of paternity.
▸ This blood group system follow the laws of Mendelian
genetics.
▸ In 1976, the Americal Medical Association and the American
Bar Association recommended seven system for routing
blood group investigation in cases of disputed parentage.
1943, the starlet Joan Barry accused
actor Charlie Chaplin of fathering her
child.
Although blood tests definitively
excluded Chaplin as the father, the
court did not allow this evidence to be
admitted, and Chaplin was ordered to
pay child support to Barry.
Recommended blood group systems

▸ ABO blood group system

▸ Rh blood group system
▸ MNSs
▸ Kell
▸ Duffy
▸ Kidd
▸ HLA
What is
Codominance?
DNA and the Exclusion of
Parentage
USE OF DNA TESTING

▸ Samples obtained from multiple

individuals are compared for
inherited similarities (parentage
investigation).
▸ In forensic DNA testing, crime
scene samples are evaluated for
an exact match with a suspect.
▸ In the identification of human
remains and missing persons
Historical Background

▸ Sir Alec Jeffreys suggested that DNA typing is useful for

forensic identification and coined the term “DNA
fingerpringint”
▸ Today, laboratories worldwide uses DNA testing in the
criminal justice system
▸ The same technology is now use to identify victims of war
or mass disasters
Advantages of the DNA

▸ Permits the direct identification of the individual source.

▸ The human genome is approximately 99.9% the same
between individuals.
▸ It is the 0.1% difference that forensic scientist use to
identify individuals
Polymerase Chain reaction
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Polymerase Chain reaction
Polymerase Chain reaction
Samples and specimen collection

▸ Buccal swabs
▸ Blood stains
▸ Fresh whole blood
▸ Any other material that may
contain cells from the suspect
▹ Vaginal swab that may contain semen from
suspect
▹ Cigarette butt or drinking glass
Samples and specimen collection

▸ In dead persons
▹ Putrefaction can deteriorate the DNA.
▹ Liver is a poor source because liver cells contain autolytic enzymes.
▹ Brain tissue is a relatively good source in the intermediate post mortem period.
▹ Bone and teeth are stable sources (even decades old)
Samples and specimen collection

▸ Prevent contamination by other sources of DNA.

▸ Specimens should be collected using gloves and pristine
instruments.
▸ When possible nonexposed tissue should be collected.
▸ Specimen should be kept cold or preferable frozen.
▸ Dessication, even simple air-drying may be an adequate method
of storage of some DNA specimens (e.g. bloodstains and bone)
Samples and specimen collection

▸ Tissues in formalin are not optimal

▸ Chain of custody should be properly documented.
Exclusion of parentage

▸ The primary goal in cases of disputed parentage is to

identify the biologic parent of a given child.
▸ At present, this cannot be done with absolute certainty.
▸ Genetic marker tests can only provide evidence of non-
parentage.
▸ By using multiple genetic system, it is possible to exclude
most ( >99%), but not all, non-parents.
Exclusion of parentage

▸ Exclusions are identified by finding exceptions to the

expected inheritance pattern.
▸ An allele present in the child but not in the mother is
referred to as the Obligatory paternal gene (OG).
Exclusion of parentage

▸ If the tested man does not have the possibility of passing

the OG and the marker of the gene is absent in the
presumed mother, the exclusion observed is termed direct
exclusion.
▸ An exclusion at a single locus is not considered enough
evidence to establish non-paternity due to the mutation rate
observed in DNA testing.
Exclusion of parentage

▸ Absence of an expected genetic marker in a child when the

parent in question appears tobe homozygous is called an
Indirect exclusion (also knows an reverse homozygosity).
▸ One indirect exclusion is not sufficient evidence to conclude
that the tested individual is not the parent (again because
of mutation).
Probability of Exclusion

▸ An estimate of the average chance that testing will prove

non-parentage.
▸ For each genetic system, an average PE can be calculated
based on the gene frequencies for the alleles in the system.
▸ A highly polymorphic system has a greater power of
exclusion than a system with only a few alleles or one that
has one or two common alleles and many alleles.
Combine probability of exclusion

▸ The individual probability of exclusion is calculated for each

of the genetic system analyzed.
▸ The overall combined probability of exclusion (CPE) can be
calculated by using the formula:
Combine probability of exclusion

CPE= 1 – [(1-PE1) X (1-PE2) X (1-PE3)….(1-PEN)]

Where PE is the probability of exclusion for each system used.

With an appropriately selected battery of DNA marker system,
a CPE of 0.995 or greater is easily achieved.
Inclusion of parentage

▸ If after the testing, the parent in dispute is not excluded,

then an estimate of the possibility that the tested person
could be the biologic parent should be calculated.
▸ If providing estimates of inclusion of paternity, appropriate
gene frequency tables are used.
Inclusion of parentage

▸ In general, this means that a population of random persons

of the same race has been phenotyped, that the size of the
sample is large enough to provide gene frequencies with
minimum errors of estimation for the alleles in the system
and that the tested male and the biologic father are from
the same population.
Inclusion of parentage

▸ When multiple systems have been tested, the differences observed in

gene frequencies in populations from various geographic locations
become unimportant in calculations of the likelihood of paternity.*
▸ When the tested male is of mixed racial background or from a
- Hummel & Claussen, 1981
population for which there are inadequate frequency tables, it may be
impossible to provide a precise estimate of paternity.
▸ In this situation, comparisons with frequencies for several defined
racial groups may be helpful.
Likelihood of Parentage
▸ Another useful estimate that combines the genetic testing with
assumptions about prior events.
▸ This estimate uses the PI to summarize the genetic information and a p ( a
value for the prior probability) to account for the following assumptions:
▹ The tested man was not sterile.
▹ The tested man had access during the conceptive period.
▹ The tested man is not a close (first degree) relative of the father
▹ Other possible fathers are from a population with similar gene
frequencies.
THANKS!
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